Precision Medicine Care (PMC)Precision Medicine Care (PMC)
PMC Comprehensive Neuromuscular Disorders Panel examines genes associated with various hereditary neuromuscular conditions| such as muscular dystrophies| inherited myopathies| mitochondrial disorders| congenital myasthenic syndromes| and rhabdomyolysis. Due to overlapping clinical features of hereditary susceptibility conditions| utilizing a comprehensive panel test enables a thorough evaluation of potential genes for individuals with similar clinical symptoms. Some genes included in this panel may also be associated with conditions unrelated to the clinical indication for testing. Genetic testing can help with establishing accurate diagnosis| targeted treatment| prognosis prediction| family planning and preventive measures.
This panel does not cover FSHD1| OPMD| or myotonic dystrophy types 1 and 2.
Targeted Exome/ Slice Exome (Next Generation Sequencing)
120x
All sequencing technologies have limitations. A negative result from this analysis does not rule out a possible genetic diagnosis as some variants may not be detected by this test. This test is not designed to detect low level mosaicism, structural rearrangements, indels >40bp, deep intronic variants of unknown clinical significance, or large cytogenetic CNVs. Certain inherent qualities of the human genome, for example repetitive regions/homopolymers, GC rich, pseudogenes, and rare polymorphisms, pose significant technical challenges such as sequence misalignment that may potentially impact the accuracy of the results. False negative results may also occur in the setting of allogeneic bone marrow, stem cell transplantation, active or chronic hematologic conditions, recent blood transfusions, suboptimal DNA quality or PCR trace contamination. Other potential sources of error include sample mix-ups and clerical issues.